Literature DB >> 30232087

Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.

Sarah K Westbury1,2,3, Kate Downes3,4,5, Claire Burney6, Maria L Lozano7, Samya G Obaji8, Cheng Hock Toh9,10, Teresa Sevivas11, Neil V Morgan12, Wendy N Erber3,13,14,15, Carly Kempster4,5, Samantha F Moore16, Chantal Thys17, Sofia Papadia3,4, Willem H Ouwehand3,4,5,18,19, Michael A Laffan3,20,21, Keith Gomez3,22, Kathleen Freson3,17, Jose Rivera7, Andrew D Mumford1,2,3.   

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Year:  2018        PMID: 30232087      PMCID: PMC6156883          DOI: 10.1182/bloodadvances.2018020370

Source DB:  PubMed          Journal:  Blood Adv        ISSN: 2473-9529


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  19 in total

1.  Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease.

Authors:  Akira Ganaha; Tadashi Kaname; Ayano Shinjou; Yasutsugu Chinen; Kumiko Yanagi; Teruyuki Higa; Shunsuke Kondo; Mikio Suzuki
Journal:  Am J Med Genet A       Date:  2017-08-16       Impact factor: 2.802

2.  Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

Authors:  K E Heath; A Campos-Barros; A Toren; G Rozenfeld-Granot; L E Carlsson; J Savige; J C Denison; M C Gregory; J G White; D F Barker; A Greinacher; C J Epstein; M J Glucksman; J A Martignetti
Journal:  Am J Hum Genet       Date:  2001-10-04       Impact factor: 11.025

3.  Effect of early surgery in high surgical risk geriatric patients with femoral neck fracture and taking antiplatelet agents.

Authors:  Paphon Sa-Ngasoongsong; Noratep Kulachote; Norachart Sirisreetreerux; Pongsthorn Chanplakorn; Sukij Laohajaroensombat; Nithiwut Pinsiranon; Patarawan Woratanarat; Viroj Kawinwonggowit; Chanyut Suphachatwong; Wiwat Wajanavisit
Journal:  World J Orthop       Date:  2015-12-18

4.  In vivo effects of eltrombopag on platelet function in immune thrombocytopenia: no evidence of platelet activation.

Authors:  Bethan Psaila; James B Bussel; Matthew D Linden; Bracken Babula; Youfu Li; Marc R Barnard; Chinara Tate; Kanika Mathur; Andrew L Frelinger; Alan D Michelson
Journal:  Blood       Date:  2012-01-31       Impact factor: 22.113

5.  Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous.

Authors:  E D Lynch; M K Lee; J E Morrow; P L Welcsh; P E León; M C King
Journal:  Science       Date:  1997-11-14       Impact factor: 47.728

6.  MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

Authors:  Alessandro Pecci; Catherine Klersy; Paolo Gresele; Kieran J D Lee; Daniela De Rocco; Valeria Bozzi; Giovanna Russo; Paula G Heller; Giuseppe Loffredo; Matthias Ballmaier; Fabrizio Fabris; Eloise Beggiato; Walter H A Kahr; Nuria Pujol-Moix; Helen Platokouki; Christel Van Geet; Patrizia Noris; Preethi Yerram; Cedric Hermans; Bernhard Gerber; Marina Economou; Marco De Groot; Barbara Zieger; Erica De Candia; Vincenzo Fraticelli; Rogier Kersseboom; Giorgina B Piccoli; Stefanie Zimmermann; Tiziana Fierro; Ana C Glembotsky; Fabrizio Vianello; Carlo Zaninetti; Elena Nicchia; Christiane Güthner; Carlo Baronci; Marco Seri; Peter J Knight; Carlo L Balduini; Anna Savoia
Journal:  Hum Mutat       Date:  2013-12-12       Impact factor: 4.878

7.  A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

Authors:  Simon Stritt; Paquita Nurden; Ernest Turro; Daniel Greene; Sjoert B Jansen; Sarah K Westbury; Romina Petersen; William J Astle; Sandrine Marlin; Tadbir K Bariana; Myrto Kostadima; Claire Lentaigne; Stephanie Maiwald; Sofia Papadia; Anne M Kelly; Jonathan C Stephens; Christopher J Penkett; Sofie Ashford; Salih Tuna; Steve Austin; Tamam Bakchoul; Peter Collins; Rémi Favier; Michele P Lambert; Mary Mathias; Carolyn M Millar; Rutendo Mapeta; David J Perry; Sol Schulman; Ilenia Simeoni; Chantal Thys; Keith Gomez; Wendy N Erber; Kathleen Stirrups; Augusto Rendon; John R Bradley; Chris van Geet; F Lucy Raymond; Michael A Laffan; Alan T Nurden; Bernhard Nieswandt; Sylvia Richardson; Kathleen Freson; Willem H Ouwehand; Andrew D Mumford
Journal:  Blood       Date:  2016-02-24       Impact factor: 22.113

8.  A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Authors:  Ilenia Simeoni; Jonathan C Stephens; Fengyuan Hu; Sri V V Deevi; Karyn Megy; Tadbir K Bariana; Claire Lentaigne; Sol Schulman; Suthesh Sivapalaratnam; Minka J A Vries; Sarah K Westbury; Daniel Greene; Sofia Papadia; Marie-Christine Alessi; Antony P Attwood; Matthias Ballmaier; Gareth Baynam; Emilse Bermejo; Marta Bertoli; Paul F Bray; Loredana Bury; Marco Cattaneo; Peter Collins; Louise C Daugherty; Rémi Favier; Deborah L French; Bruce Furie; Michael Gattens; Manuela Germeshausen; Cedric Ghevaert; Anne C Goodeve; Jose A Guerrero; Daniel J Hampshire; Daniel P Hart; Johan W M Heemskerk; Yvonne M C Henskens; Marian Hill; Nancy Hogg; Jennifer D Jolley; Walter H Kahr; Anne M Kelly; Ron Kerr; Myrto Kostadima; Shinji Kunishima; Michele P Lambert; Ri Liesner; José A López; Rutendo P Mapeta; Mary Mathias; Carolyn M Millar; Amit Nathwani; Marguerite Neerman-Arbez; Alan T Nurden; Paquita Nurden; Maha Othman; Kathelijne Peerlinck; David J Perry; Pawan Poudel; Pieter Reitsma; Matthew T Rondina; Peter A Smethurst; William Stevenson; Artur Szkotak; Salih Tuna; Christel van Geet; Deborah Whitehorn; David A Wilcox; Bin Zhang; Shoshana Revel-Vilk; Paolo Gresele; Daniel B Bellissimo; Christopher J Penkett; Michael A Laffan; Andrew D Mumford; Augusto Rendon; Keith Gomez; Kathleen Freson; Willem H Ouwehand; Ernest Turro
Journal:  Blood       Date:  2016-04-15       Impact factor: 25.476

9.  Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.

Authors:  Alessandro Pecci; Ginevra Biino; Tiziana Fierro; Valeria Bozzi; Annamaria Mezzasoma; Patrizia Noris; Ugo Ramenghi; Giuseppe Loffredo; Fabrizio Fabris; Stefania Momi; Umberto Magrini; Mario Pirastu; Anna Savoia; Carlo Balduini; Paolo Gresele
Journal:  PLoS One       Date:  2012-04-25       Impact factor: 3.240

10.  Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.

Authors:  Takehiko Ueyama; Yuzuru Ninoyu; Shin-Ya Nishio; Takushi Miyoshi; Hiroko Torii; Koji Nishimura; Kazuma Sugahara; Hideaki Sakata; Dean Thumkeo; Hirofumi Sakaguchi; Naoki Watanabe; Shin-Ichi Usami; Naoaki Saito; Shin-Ichiro Kitajiri
Journal:  EMBO Mol Med       Date:  2016-11-02       Impact factor: 12.137

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  17 in total

1.  Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

Authors:  Kate Downes; Karyn Megy; Daniel Duarte; Minka Vries; Johanna Gebhart; Stefanie Hofer; Olga Shamardina; Sri V V Deevi; Jonathan Stephens; Rutendo Mapeta; Salih Tuna; Namir Al Hasso; Martin W Besser; Nichola Cooper; Louise Daugherty; Nick Gleadall; Daniel Greene; Matthias Haimel; Howard Martin; Sofia Papadia; Shoshana Revel-Vilk; Suthesh Sivapalaratnam; Emily Symington; Will Thomas; Chantal Thys; Alexander Tolios; Christopher J Penkett; Willem H Ouwehand; Stephen Abbs; Michael A Laffan; Ernest Turro; Ilenia Simeoni; Andrew D Mumford; Yvonne M C Henskens; Ingrid Pabinger; Keith Gomez; Kathleen Freson
Journal:  Blood       Date:  2019-12-05       Impact factor: 22.113

Review 2.  Genetics of inherited thrombocytopenias.

Authors:  Julia T Warren; Jorge Di Paola
Journal:  Blood       Date:  2022-06-02       Impact factor: 25.476

3.  Whole-genome sequencing of patients with rare diseases in a national health system.

Authors:  Ernest Turro; William J Astle; Karyn Megy; Stefan Gräf; Daniel Greene; Olga Shamardina; Hana Lango Allen; Alba Sanchis-Juan; Mattia Frontini; Chantal Thys; Jonathan Stephens; Rutendo Mapeta; Oliver S Burren; Kate Downes; Matthias Haimel; Salih Tuna; Sri V V Deevi; Timothy J Aitman; David L Bennett; Paul Calleja; Keren Carss; Mark J Caulfield; Patrick F Chinnery; Peter H Dixon; Daniel P Gale; Roger James; Ania Koziell; Michael A Laffan; Adam P Levine; Eamonn R Maher; Hugh S Markus; Joannella Morales; Nicholas W Morrell; Andrew D Mumford; Elizabeth Ormondroyd; Stuart Rankin; Augusto Rendon; Sylvia Richardson; Irene Roberts; Noemi B A Roy; Moin A Saleem; Kenneth G C Smith; Hannah Stark; Rhea Y Y Tan; Andreas C Themistocleous; Adrian J Thrasher; Hugh Watkins; Andrew R Webster; Martin R Wilkins; Catherine Williamson; James Whitworth; Sean Humphray; David R Bentley; Nathalie Kingston; Neil Walker; John R Bradley; Sofie Ashford; Christopher J Penkett; Kathleen Freson; Kathleen E Stirrups; F Lucy Raymond; Willem H Ouwehand
Journal:  Nature       Date:  2020-06-24       Impact factor: 49.962

Review 4.  Inherited Platelet Disorders: An Updated Overview.

Authors:  Verónica Palma-Barqueros; Nuria Revilla; Ana Sánchez; Ana Zamora Cánovas; Agustín Rodriguez-Alén; Ana Marín-Quílez; José Ramón González-Porras; Vicente Vicente; María Luisa Lozano; José María Bastida; José Rivera
Journal:  Int J Mol Sci       Date:  2021-04-26       Impact factor: 5.923

5.  Late-onset hearing loss case associated with a heterozygous truncating variant of DIAPH1.

Authors:  Bong Jik Kim; Takushi Miyoshi; Taimur Chaudhry; Thomas B Friedman; Byung Yoon Choi; Takehiko Ueyama
Journal:  Clin Genet       Date:  2022-02-02       Impact factor: 4.296

Review 6.  Inherited thrombocytopenias: history, advances and perspectives.

Authors:  Alan T Nurden; Paquita Nurden
Journal:  Haematologica       Date:  2020-06-11       Impact factor: 9.941

Review 7.  Rho-Family Small GTPases: From Highly Polarized Sensory Neurons to Cancer Cells.

Authors:  Takehiko Ueyama
Journal:  Cells       Date:  2019-01-28       Impact factor: 6.600

8.  Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial.

Authors:  Carlo Zaninetti; Paolo Gresele; Antonella Bertomoro; Catherine Klersy; Erica De Candia; Dino Veneri; Serena Barozzi; Tiziana Fierro; Maria Adele Alberelli; Valeria Musella; Patrizia Noris; Fabrizio Fabris; Carlo L Balduini; Alessandro Pecci
Journal:  Haematologica       Date:  2019-07-04       Impact factor: 9.941

Review 9.  Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.

Authors:  Takushi Miyoshi; Inna A Belyantseva; Shin-Ichiro Kitajiri; Hiroki Miyajima; Shin-Ya Nishio; Shin-Ichi Usami; Bong Jik Kim; Byung Yoon Choi; Koichi Omori; Hari Shroff; Thomas B Friedman
Journal:  Hum Genet       Date:  2021-07-07       Impact factor: 4.132

10.  The integrity of cochlear hair cells is established and maintained through the localization of Dia1 at apical junctional complexes and stereocilia.

Authors:  Yuzuru Ninoyu; Hirofumi Sakaguchi; Chen Lin; Toshiaki Suzuki; Shigeru Hirano; Yasuo Hisa; Naoaki Saito; Takehiko Ueyama
Journal:  Cell Death Dis       Date:  2020-07-16       Impact factor: 8.469

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